Rare Daily Staff

Rady Children’s Institute for Genomic Medicine said it entered into a research collaboration with Takeda Pharmaceutical to accelerate the discovery and development of new treatments for rare childhood-onset diseases by analyzing the natural progression of selected genetic disorders from genome-phenome datasets.

The project will examine genomic and phenotypic data from de-identified cohorts of pediatric patients to better understand the evolution of rare diseases that typically manifest in childhood. Ultimately, the goal is to improve clinical outcomes for patients by providing precise diagnoses and targeted treatments as early as possible to avoid morbidity or mortality.

Rady Children’s Institute for Genomic Medicine, which is embedded within Rady Children’s Hospital and Health Center, has pioneered rapid and ultra-rapid diagnoses of rare genetic disorders for critically ill newborns and children via whole genome sequencing. In medically urgent cases, involving children in intensive care settings, preliminary results are returned in less than three days. The Institute provides whole genome sequencing services and clinical decision support to a growing network of more than 60 hospital systems nationwide.

“The results of the first 2,000 children to receive rapid whole genome sequencing at the Genomics Institute have confirmed our understanding that most childhood genetic diseases currently lack effective treatments,” said Stephen Kingsmore, president and CEO of Rady Children’s Institute for Genomic Medicine. “We are striving for a future where we can not only diagnose a child’s rare disease but also provide disease-specific treatment. Our collaboration with Takeda is a crucial step toward this goal.”

Under the terms of the agreement, the institute will provide aggregated, de-identified genomic and phenotypic data derived from WGS cases for specific disease cohorts. Takeda will oversee the drug discovery and development of potential targeted therapeutics resulting from the program. Additional terms were not disclosed.

“Rady Children’s Institute for Genomic Medicine has led the way in using whole genome sequencing to better understand the genetic drivers of rare diseases in children,” said Dan Curran, head of Rare Genetics and Hematology Therapeutic Area Unit at Takeda. “It’s through these efforts that we hope to derive new insights on how childhood-onset diseases manifest, enabling us to more quickly develop transformative therapies for the families who desperately need them.”

Photo: Stephen Kingsmore, president and CEO of Rady Children’s Institute for Genomic Medicine

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